Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Soohyun Kim(Korea Basic Science Institute), Hudson H. Freeze(Discovery Institute), Marc C. Patterson(Mayo Clinic), Darshini P. Mehta(Sanford Burnham Prebys Medical Discovery Institute), Pamela S. Karnes(Children's Hospital of Los Angeles), Vibeke Westphal(Sanford Burnham Prebys Medical Discovery Institute), Sandra M. Peterson(Sanford Burnham Prebys Medical Discovery Institute), James J. Filiano(Dartmouth–Hitchcock Medical Center), Geetha Srikrishna(Johns Hopkins University)
Journal of Clinical Investigation
January 15, 2000
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